Background for a Clinical Phenotype Ontology
These notes are preparatory for the [http://www.bioontology.org/wiki/index.php/DallasWorkshop Dallas Workshop]: "Signs, Symptoms and Findings: First Steps Toward an Ontology of Clinical Phenotypes" BR I will also attempt at adopting, at the same time, a more realist or more epistemological perspective.
Diagnostic Evidences, Physiological Phenomena, Pathological Patient Classes
The meta-model of the NEUROWEB Reference Ontology can be generalized. It relies on this analytical deconstruction of the general workflow in medical diagnosis:
collect diagnostic evidences, which are stored in the medical record in the form of clinical indicators BR Note: the term diagnostic evidence puts the accent on the inference of a certain phenomenon from certain observations, and according to a varying mix of general theory and expert, thus is more related to the context (diagnostic process); the term clinical indicator puts the accent on a storable item of information
infer the occurrence of (Patho)Physiological Phenomena, referring to the standing Anatomic-Physiological model of the human organism BR Note: how the inference is formulated is pretty much of a hard matter; eraly AI approaches attempted at replacing the physician in this task, but substantially failed; here the accent is mostly on the content theory, rather than the inference mechanism
assign the patient to a formal Pathological Class, useful for standardized treatment decision, clinical trials, genetic or other kind of association studies, etc...
Example: simplified diagnosis of a stroke: 1. identify symptoms of cognitive and motory impairment, 1. perform brain imaging and identify a darker area possibly corresponding to a brain lesion, 1. infer that a brain lesion occurred because of the formation of an obstructing body (different possible causes), which eventually obstructed a brain artery, 1. finalize the diagnosis and assign the patient to a class
Different areas of medicine are expected to have different taxonomies of Pathological Classes, but most of the content theory concerning (Patho)Physiological Phenomena is expected to be shared, to a certain degree (although there are probably problems of granularity, and different perspective). BR Test case: how shared is the notion of Stenosis?